rs201307156
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201307156(C;T) |
Make rs201307156(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 183243203 |
Gene | LAMC2 |
is a | snp |
is | mentioned by |
dbSNP | rs201307156 |
dbSNP (classic) | rs201307156 |
ClinGen | rs201307156 |
ebi | rs201307156 |
HLI | rs201307156 |
Exac | rs201307156 |
Gnomad | rs201307156 |
Varsome | rs201307156 |
LitVar | rs201307156 |
Map | rs201307156 |
PheGenI | rs201307156 |
Biobank | rs201307156 |
1000 genomes | rs201307156 |
hgdp | rs201307156 |
ensembl | rs201307156 |
geneview | rs201307156 |
scholar | rs201307156 |
rs201307156 | |
pharmgkb | rs201307156 |
gwascentral | rs201307156 |
openSNP | rs201307156 |
23andMe | rs201307156 |
SNPshot | rs201307156 |
SNPdbe | rs201307156 |
MSV3d | rs201307156 |
GWAS Ctlg | rs201307156 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201307156(T;T) |
Alt | rs201307156(T;T) |
Reference | Rs201307156(C;C) |
Significance | Probable-Pathogenic |
Disease | Junctional epidermolysis bullosa gravis of Herlitz |
Variation | info |
Gene | LAMC2 |
CLNDBN | Junctional epidermolysis bullosa gravis of Herlitz |
Reversed | 0 |
HGVS | NC_000001.10:g.183212338C>T |
CLNSRC | |
CLNACC | RCV000411632.1, |